Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.R222Q
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SCN1A

NM_001165963.4:p.R222Q

Associated Papers

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cannizzaro IR et al.

International Journal of Molecular Sciences, 2024

39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP

ELUCIDATING THE DIFFERENTIAL IMPACTS OF EQUIVALENT GATING-CHARGE MUTATIONS IN VOLTAGE-GATED SODIUM CHANNELS.

Elhanafy E et al.

Biorxiv : the Preprint Server for Biology, 2024

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Loussouarn G et al.

Frontiers in Pharmacology, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."